Le informazioni sugli articoli di fonte ISI sono coperte da copyright

Per ulteriori informazioni selezionare i riferimenti di interesse.

1. Zuccotti, M; Boiani, M; Ponce, R; Guizzardi, S; Scandroglio, R; Garagna, S; Redi, CA
   Mouse Xist expression begins at zygotic genome activation and is timed by a zygotic clock
   MOLECULAR REPRODUCTION AND DEVELOPMENT
   
   M. Zuccotti et al., "Mouse Xist expression begins at zygotic genome activation and is timed by a zygotic clock", MOL REPROD, 61(1), 2002, pp. 14-20
2. Ostrer, H
   Genome and hormones: Gender differences in physiology - Invited review: Sex-based differences in gene expression
   JOURNAL OF APPLIED PHYSIOLOGY
   
   H. Ostrer, "Genome and hormones: Gender differences in physiology - Invited review: Sex-based differences in gene expression", J APP PHYSL, 91(5), 2001, pp. 2384-2388
3. Brown, CJ
   Equality of the sexes: Mammalian dosage compensation
   SEMINARS IN REPRODUCTIVE MEDICINE
   
   C.J. Brown, "Equality of the sexes: Mammalian dosage compensation", SEMIN REP M, 19(2), 2001, pp. 125-132
4. Leppig, KA; Disteche, CM
   Ring X and other structural X chromosome abnormalities: X inactivation andphenotype
   SEMINARS IN REPRODUCTIVE MEDICINE
   
   K.A. Leppig e C.M. Disteche, "Ring X and other structural X chromosome abnormalities: X inactivation andphenotype", SEMIN REP M, 19(2), 2001, pp. 147-157
5. Robinson, WP; Beever, C; Brown, CJ; Stephenson, MD
   Skewed X inactivation and recurrent spontaneous abortion
   SEMINARS IN REPRODUCTIVE MEDICINE
   
   W.P. Robinson et al., "Skewed X inactivation and recurrent spontaneous abortion", SEMIN REP M, 19(2), 2001, pp. 175-181
6. Van den Veyver, IB
   Skewed X inactivation in X-linked disorders
   SEMINARS IN REPRODUCTIVE MEDICINE
   
   I.B. Van den Veyver, "Skewed X inactivation in X-linked disorders", SEMIN REP M, 19(2), 2001, pp. 183-191
7. Uehara, S; Sato, K; Hashiyada, M; Obara, Y; Matsuzaki, S; Nata, M; Okamura, K
   X chromosome inactivation patterns in 45,X/46,XX mosaics
   JOURNAL OF HUMAN GENETICS
   
   S. Uehara et al., "X chromosome inactivation patterns in 45,X/46,XX mosaics", J HUM GENET, 46(3), 2001, pp. 126-131
8. Erdmann, VA; Barciszewska, MZ; Hochberg, A; de Groot, N; Barciszewski, J
   Regulatory RNAs
   CELLULAR AND MOLECULAR LIFE SCIENCES
   
   V.A. Erdmann et al., "Regulatory RNAs", CELL MOL L, 58(7), 2001, pp. 960-977
9. Vasques, LR; Pereira, LV
   Allele-specific X-linked gene activity in normal human cells assayed by expressed single nucleotide polymorphisms (cSNPs)
   DNA RESEARCH
   
   L.R. Vasques e L.V. Pereira, "Allele-specific X-linked gene activity in normal human cells assayed by expressed single nucleotide polymorphisms (cSNPs)", DNA RES, 8(4), 2001, pp. 173-177
10. Nesterova, TB; Slobodyanyuk, SY; Elisaphenko, EA; Shevchenko, AI; Johnston, C; Pavlova, ME; Rogozin, IB; Kolesnikov, NN; Brockdorff, N; Zakian, SM
    Characterization of the genomic Xist locus in rodents reveals conservationof overall gene structure and tandem repeats but rapid evolution of uniquesequence
    GENOME RESEARCH
    
    T.B. Nesterova et al., "Characterization of the genomic Xist locus in rodents reveals conservationof overall gene structure and tandem repeats but rapid evolution of uniquesequence", GENOME RES, 11(5), 2001, pp. 833-849
11. Paulsen, M; Takada, S; Youngson, NA; Benchaib, M; Charlier, C; Segers, K; Georges, M; Ferguson-Smith, AC
    Comparative sequence analysis of the imprinted Dlk1-Gtl2 locus in three mammalian species reveals highly conserved genomic elements and refines comparison with the Igf2-H19 region
    GENOME RESEARCH
    
    M. Paulsen et al., "Comparative sequence analysis of the imprinted Dlk1-Gtl2 locus in three mammalian species reveals highly conserved genomic elements and refines comparison with the Igf2-H19 region", GENOME RES, 11(12), 2001, pp. 2085-2094
12. Perry, J; Palmer, S; Gabriel, A; Ashworth, A
    A short pseudoautosomal region in laboratory mice
    GENOME RESEARCH
    
    J. Perry et al., "A short pseudoautosomal region in laboratory mice", GENOME RES, 11(11), 2001, pp. 1826-1832
13. Urnov, FD; Wolffe, AP
    Above and within the genome: Epigenetics past and present
    JOURNAL OF MAMMARY GLAND BIOLOGY AND NEOPLASIA
    
    F.D. Urnov e A.P. Wolffe, "Above and within the genome: Epigenetics past and present", J MAMMARY G, 6(2), 2001, pp. 153-167
14. Fischer, A
    Primary T-lymphocyte immunodeficiencies
    CLINICAL REVIEWS IN ALLERGY & IMMUNOLOGY
    
    A. Fischer, "Primary T-lymphocyte immunodeficiencies", CL R ALL IM, 20(1), 2001, pp. 3-26
15. Jungbluth, AA; King, R; Fisher, DE; Iversen, K; Coplan, K; Kolb, D; Williamson, B; Chen, YT; Stockert, E; Old, LJ; Busam, KJ
    Immunohistochemical and reverse transcription-polymerase chain reaction expression analysis of tyrosinase and microphthalmia-associated transcriptionfactor in angiomyolipomas
    APPLIED IMMUNOHISTOCHEMISTRY & MOLECULAR MORPHOLOGY
    
    A.A. Jungbluth et al., "Immunohistochemical and reverse transcription-polymerase chain reaction expression analysis of tyrosinase and microphthalmia-associated transcriptionfactor in angiomyolipomas", APPL IMMUNO, 9(1), 2001, pp. 29-34
16. Diaz-Cano, SJ; Blanes, A; Wolfe, HJ
    PCR techniques for clonality assays
    DIAGNOSTIC MOLECULAR PATHOLOGY
    
    S.J. Diaz-Cano et al., "PCR techniques for clonality assays", DIAGN MOL P, 10(1), 2001, pp. 24-33
17. Levy, A
    Monoclonality of endocrine tumours: what does it mean?
    TRENDS IN ENDOCRINOLOGY AND METABOLISM
    
    A. Levy, "Monoclonality of endocrine tumours: what does it mean?", TRENDS ENDO, 12(7), 2001, pp. 301-307
18. Lang, A; Good, GW
    Color discrimination in heterozygous deutan carriers
    OPTOMETRY AND VISION SCIENCE
    
    A. Lang e G.W. Good, "Color discrimination in heterozygous deutan carriers", OPT VIS SCI, 78(8), 2001, pp. 584-588
19. Rosenberg, C; Wouters, CH; Szuhai, K; Dorland, R; Pearson, P; Poll-The, BT; Colombijn, RM; Bruning, M; Lindhout, D
    A Rett syndrome patient with a ring X chromosome: further evidence for skewing of X inactivation and heterogeneity in the aetiology of the disease
    EUROPEAN JOURNAL OF HUMAN GENETICS
    
    C. Rosenberg et al., "A Rett syndrome patient with a ring X chromosome: further evidence for skewing of X inactivation and heterogeneity in the aetiology of the disease", EUR J HUM G, 9(3), 2001, pp. 171-177
20. Nielsen, JB; Henriksen, KF; Hansen, C; Silahtaroglu, A; Schwartz, M; Tommerup, N
    MECP2 mutations in Danish patients with Rett syndrome: High frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation pattern
    EUROPEAN JOURNAL OF HUMAN GENETICS
    
    J.B. Nielsen et al., "MECP2 mutations in Danish patients with Rett syndrome: High frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation pattern", EUR J HUM G, 9(3), 2001, pp. 178-184
21. Girard, M; Couvert, P; Carrie, A; Tardieu, M; Chelly, J; Beldjord, C; Bienvenu, T
    Parental origin of de novo MECP2 mutations in Rett syndrome
    EUROPEAN JOURNAL OF HUMAN GENETICS
    
    M. Girard et al., "Parental origin of de novo MECP2 mutations in Rett syndrome", EUR J HUM G, 9(3), 2001, pp. 231-236
22. Matsumoto, N; Leventer, RJ; Kuc, JA; Mewborn, SK; Dudlicek, LL; Ramocki, MB; Pilz, DT; Mills, PL; Das, S; Ross, ME; Ledbetter, DH; Dobyns, WB
    Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia
    EUROPEAN JOURNAL OF HUMAN GENETICS
    
    N. Matsumoto et al., "Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia", EUR J HUM G, 9(1), 2001, pp. 5-12
23. Teranishi, M; Shimada, Y; Hori, T; Nakabayashi, O; Kikuchi, T; Macleod, T; Pym, R; Sheldon, B; Solovei, I; Macgregor, H; Mizuno, S
    Transcripts of the MHM region on the chicken Z chromosome accumulate as non-coding RNA in the nucleus of female cells adjacent to the DMRT1 locus
    CHROMOSOME RESEARCH
    
    M. Teranishi et al., "Transcripts of the MHM region on the chicken Z chromosome accumulate as non-coding RNA in the nucleus of female cells adjacent to the DMRT1 locus", CHROMOS RES, 9(2), 2001, pp. 147-165
24. LaSalle, JM; Goldstine, J; Balmer, D; Greco, CM
    Quantitative localization of heterogeneous methyl-CpG-binding protein 2 (MeCP2) expression phenotypes in normal and Rett syndrome brain by laser scanning cytometry
    HUMAN MOLECULAR GENETICS
    
    J.M. LaSalle et al., "Quantitative localization of heterogeneous methyl-CpG-binding protein 2 (MeCP2) expression phenotypes in normal and Rett syndrome brain by laser scanning cytometry", HUM MOL GEN, 10(17), 2001, pp. 1729-1740
25. Wan, MM; Zhao, KJ; Lee, SSJ; Francke, U
    MECP2 truncating mutations cause histone H4 hyperacetylation in Rett syndrome
    HUMAN MOLECULAR GENETICS
    
    M.M. Wan et al., "MECP2 truncating mutations cause histone H4 hyperacetylation in Rett syndrome", HUM MOL GEN, 10(10), 2001, pp. 1085-1092
26. Ellaway, C; Christodoulou, J
    Rett syndrome: clinical characteristics and recent genetic advances
    DISABILITY AND REHABILITATION
    
    C. Ellaway e J. Christodoulou, "Rett syndrome: clinical characteristics and recent genetic advances", DISABIL REH, 23(3-4), 2001, pp. 98-106
27. Romero, NB; De Lonlay, P; Llense, S; Leturcq, F; Touati, G; Urtizberea, JA; Saudubray, JM; Munnich, A; Kaplan, JC; Recan, D
    Pseudo-metabolic presentation in a Duchenne muscular dystrophy symptomaticcarrier with 'de novo' duplication of dystrophin gene
    NEUROMUSCULAR DISORDERS
    
    N.B. Romero et al., "Pseudo-metabolic presentation in a Duchenne muscular dystrophy symptomaticcarrier with 'de novo' duplication of dystrophin gene", NEUROMUSC D, 11(5), 2001, pp. 494-498
28. Sado, T; Wang, ZJ; Sasaki, H; Li, E
    Regulation of imprinted X-chromosome inactivation in mice by Tsix
    DEVELOPMENT
    
    T. Sado et al., "Regulation of imprinted X-chromosome inactivation in mice by Tsix", DEVELOPMENT, 128(8), 2001, pp. 1275-1286
29. Chen, TC; Chou, TB; Ng, KF; Hsieh, LL; Chou, YHW
    Hepatocellular carcinoma associated with focal nodular hyperplasia - Report of a case with clonal analysis
    VIRCHOWS ARCHIV-AN INTERNATIONAL JOURNAL OF PATHOLOGY
    
    T.C. Chen et al., "Hepatocellular carcinoma associated with focal nodular hyperplasia - Report of a case with clonal analysis", VIRCHOWS AR, 438(4), 2001, pp. 408-411
30. Lingenfelter, PA; Delbridge, ML; Thomas, S; Hoekstra, HE; Mitchell, MJ; Graves, JAM; Disteche, CM
    Expression and conservation of processed copies of the RBMX gene
    MAMMALIAN GENOME
    
    P.A. Lingenfelter et al., "Expression and conservation of processed copies of the RBMX gene", MAMM GENOME, 12(7), 2001, pp. 538-545
31. Agulnik, AI; Harrison, WR; Bishop, CE
    Smcy transgene does not rescue spermatogenesis in sex-reversed mice
    MAMMALIAN GENOME
    
    A.I. Agulnik et al., "Smcy transgene does not rescue spermatogenesis in sex-reversed mice", MAMM GENOME, 12(2), 2001, pp. 112-116
32. Karasawa, M; Tsukamoto, N; Yamane, A; Okamoto, K; Maehara, T; Yokohama, A; Nojima, Y; Omine, M
    Analysis of the distribution of CAG repeats and X-chromosome inactivation status of HUMARA gene in healthy female subjects using improved fluorescence-based assay
    INTERNATIONAL JOURNAL OF HEMATOLOGY
    
    M. Karasawa et al., "Analysis of the distribution of CAG repeats and X-chromosome inactivation status of HUMARA gene in healthy female subjects using improved fluorescence-based assay", INT J HEMAT, 74(3), 2001, pp. 281-286
33. Boultwood, J; Wainscoat, JS
    Clonality in the myelodysplastic syndromes
    INTERNATIONAL JOURNAL OF HEMATOLOGY
    
    J. Boultwood e J.S. Wainscoat, "Clonality in the myelodysplastic syndromes", INT J HEMAT, 73(4), 2001, pp. 411-415
34. Tefferi, A
    The pathogenesis of chronic myeloproliferative diseases
    INTERNATIONAL JOURNAL OF HEMATOLOGY
    
    A. Tefferi, "The pathogenesis of chronic myeloproliferative diseases", INT J HEMAT, 73(2), 2001, pp. 170-176
35. Guo, ZM; Wu, F; Asplund, A; Hu, XR; Mazurenko, N; Kisseljov, F; Ponten, J; Wilander, E
    Analysis of intratumoral heterogeneity of chromosome 3p deletions and genetic evidence of polyclonal origin of cervical squamous carcinoma
    MODERN PATHOLOGY
    
    Z.M. Guo et al., "Analysis of intratumoral heterogeneity of chromosome 3p deletions and genetic evidence of polyclonal origin of cervical squamous carcinoma", MOD PATHOL, 14(2), 2001, pp. 54-61
36. Chamberlain, SJ; Brannan, CI
    The Prader-Willi syndrome imprinting center activates the paternally expressed murine Ube3a antisense transcript but represses paternal Ube3a
    GENOMICS
    
    S.J. Chamberlain e C.I. Brannan, "The Prader-Willi syndrome imprinting center activates the paternally expressed murine Ube3a antisense transcript but represses paternal Ube3a", GENOMICS, 73(3), 2001, pp. 316-322
37. Tada, T; Tada, M
    Toti-/pluripotential stem cells and epigenetic modifications
    CELL STRUCTURE AND FUNCTION
    
    T. Tada e M. Tada, "Toti-/pluripotential stem cells and epigenetic modifications", CELL STRUCT, 26(3), 2001, pp. 149-160
38. Quintana-Murci, L; Krausz, C; McElreavey, K
    The human Y chromosome: function, evolution and disease
    FORENSIC SCIENCE INTERNATIONAL
    
    L. Quintana-Murci et al., "The human Y chromosome: function, evolution and disease", FOREN SCI I, 118(2-3), 2001, pp. 169-181
39. Gringras, P; Chen, W
    Mechanisms for differences in monozygous twins
    EARLY HUMAN DEVELOPMENT
    
    P. Gringras e W. Chen, "Mechanisms for differences in monozygous twins", EAR HUM DEV, 64(2), 2001, pp. 105-117
40. Memili, E; Hong, YK; Kim, DH; Ontiveros, SD; Strauss, WM
    Murine Xist RNA isoforms are different at their 3 ' ends: a role for differential polyadenylation
    GENE
    
    E. Memili et al., "Murine Xist RNA isoforms are different at their 3 ' ends: a role for differential polyadenylation", GENE, 266(1-2), 2001, pp. 131-137
41. Hart, PE; Poynter, GM; Whitehead, CM; Orth, JD; Glantz, JN; Busby, RC; Barrett, SL; Salisbury, JL
    Characterization of the X-linked murine centrin Cetn2 gene
    GENE
    
    P.E. Hart et al., "Characterization of the X-linked murine centrin Cetn2 gene", GENE, 264(2), 2001, pp. 205-213
42. Yool, DA; Klugmann, M; McLaughlin, M; Vouyiouklis, DA; Dimou, L; Barrie, JA; McCulloch, MC; Nave, KA; Griffiths, IR
    Myelin proteolipid proteins promote the interaction of oligodendrocytes and axons
    JOURNAL OF NEUROSCIENCE RESEARCH
    
    D.A. Yool et al., "Myelin proteolipid proteins promote the interaction of oligodendrocytes and axons", J NEUROSC R, 63(2), 2001, pp. 151-164
43. Ishihara, H; Kanda, F; Nishio, H; Sumino, K; Chihara, K
    Clinical features and skewed X-chromosome inactivation in female carriers of X-linked recessive spinal and bulbar muscular atrophy
    JOURNAL OF NEUROLOGY
    
    H. Ishihara et al., "Clinical features and skewed X-chromosome inactivation in female carriers of X-linked recessive spinal and bulbar muscular atrophy", J NEUROL, 248(10), 2001, pp. 856-860
44. Solari, AJ; Rahn, IM; Ferreyra, ME; Carballo, MA
    The behavior of sex chromosomes in two human X-autosome translocations: Failure of extensive x-inactivation spreading
    BIOCELL
    
    A.J. Solari et al., "The behavior of sex chromosomes in two human X-autosome translocations: Failure of extensive x-inactivation spreading", BIOCELL, 25(2), 2001, pp. 155-166
45. Monk, M; Salpekar, A
    Expression of imprinted genes in human preimplantation development
    MOLECULAR AND CELLULAR ENDOCRINOLOGY
    
    M. Monk e A. Salpekar, "Expression of imprinted genes in human preimplantation development", MOL C ENDOC, 183, 2001, pp. S35-S40
46. Hui, P; Perkins, AS; Glusac, EJ
    Assessment of clonality in melanocytic nevi
    JOURNAL OF CUTANEOUS PATHOLOGY
    
    P. Hui et al., "Assessment of clonality in melanocytic nevi", J CUT PATH, 28(3), 2001, pp. 140-144
47. Shih, LY; Lin, TL; Dunn, P; Wu, JH; Tseng, CP; Lai, CL; Wang, PN; Kuo, MC
    Clonality analysis using X-chromosome inactivation patterns by HUMARA-PCR assay in female controls and patients with idiopathic thrombocytosis in Taiwan
    EXPERIMENTAL HEMATOLOGY
    
    L.Y. Shih et al., "Clonality analysis using X-chromosome inactivation patterns by HUMARA-PCR assay in female controls and patients with idiopathic thrombocytosis in Taiwan", EXP HEMATOL, 29(2), 2001, pp. 202-208
48. Waters, PD; Duffy, B; Frost, CJ; Delbridge, ML; Graves, JAM
    The human Y chromosome derives largely from a single autosomal region added to the sex chromosomes 80-130 million years ago
    CYTOGENETICS AND CELL GENETICS
    
    P.D. Waters et al., "The human Y chromosome derives largely from a single autosomal region added to the sex chromosomes 80-130 million years ago", CYTOG C GEN, 92(1-2), 2001, pp. 74-79
49. Van Pottelbergh, I; Lumbroso, S; Goemaere, S; Sultan, C; Kaufman, JM
    Lack of influence of the androgen receptor gene CAG-repeat polymorphism onsex steroid status and bone metabolism in elderly men
    CLINICAL ENDOCRINOLOGY
    
    I. Van Pottelbergh et al., "Lack of influence of the androgen receptor gene CAG-repeat polymorphism onsex steroid status and bone metabolism in elderly men", CLIN ENDOCR, 55(5), 2001, pp. 659-666
50. Luikenhuis, S; Wutz, A; Jaenisch, R
    Antisense transcription through the Xist locus mediates Tsix function in embryonic stem cells
    MOLECULAR AND CELLULAR BIOLOGY
    
    S. Luikenhuis et al., "Antisense transcription through the Xist locus mediates Tsix function in embryonic stem cells", MOL CELL B, 21(24), 2001, pp. 8512-8520
51. Carlone, DL; Skalnik, DG
    CpG binding protein is crucial for early embryonic development
    MOLECULAR AND CELLULAR BIOLOGY
    
    D.L. Carlone e D.G. Skalnik, "CpG binding protein is crucial for early embryonic development", MOL CELL B, 21(22), 2001, pp. 7601-7606
52. Tefferi, A; Murphy, S
    Current opinion in essential thrombocythemia: pathogenesis, diagnosis, andmanagement
    BLOOD REVIEWS
    
    A. Tefferi e S. Murphy, "Current opinion in essential thrombocythemia: pathogenesis, diagnosis, andmanagement", BLOOD REV, 15(3), 2001, pp. 121-131
53. Yamane, A; Karasawa, M; Maeharal, T; Tsukamoto, N; Nojima, Y
    X chromosome methylation-based chimerism assay for sex-mismatched hematopoietic stem cell transplantation
    BONE MARROW TRANSPLANTATION
    
    A. Yamane et al., "X chromosome methylation-based chimerism assay for sex-mismatched hematopoietic stem cell transplantation", BONE MAR TR, 28(10), 2001, pp. 969-973
54. Suzuki, Y; Sasagawa, I; Tateno, T; Ashida, J; Nakada, T; Muroya, K; Ogata, T
    Mutation screening and CAG repeat length analysis of the androgen receptorgene in Klinefelter's syndrome patients with and without spermatogenesis
    HUMAN REPRODUCTION
    
    Y. Suzuki et al., "Mutation screening and CAG repeat length analysis of the androgen receptorgene in Klinefelter's syndrome patients with and without spermatogenesis", HUM REPR, 16(8), 2001, pp. 1653-1656
55. Rakyan, VK; Preis, J; Morgan, HD; Whitelaw, E
    The marks, mechanisms and memory of epigenetic states in mammals
    BIOCHEMICAL JOURNAL
    
    V.K. Rakyan et al., "The marks, mechanisms and memory of epigenetic states in mammals", BIOCHEM J, 356, 2001, pp. 1-10
56. Monk, M
    Of microbes, mice and man
    INTERNATIONAL JOURNAL OF DEVELOPMENTAL BIOLOGY
    
    M. Monk, "Of microbes, mice and man", INT J DEV B, 45(3), 2001, pp. 497-507
57. Shastry, BS
    Molecular genetics of Rett syndrome
    NEUROCHEMISTRY INTERNATIONAL
    
    B.S. Shastry, "Molecular genetics of Rett syndrome", NEUROCHEM I, 38(6), 2001, pp. 503-508
58. Uehara, S; Hanew, K; Harada, N; Yamamori, S; Nata, M; Niikawa, N; Okamura, K
    Isochromosome consisting of terminal short arm and proximal long arm X in a girl with short stature
    AMERICAN JOURNAL OF MEDICAL GENETICS
    
    S. Uehara et al., "Isochromosome consisting of terminal short arm and proximal long arm X in a girl with short stature", AM J MED G, 99(3), 2001, pp. 196-199
59. Ogata, T; Matsuo, M; Muroya, K; Koyama, Y; Fukutani, K
    47,XXX male: A clinical and molecular study
    AMERICAN JOURNAL OF MEDICAL GENETICS
    
    T. Ogata et al., "47,XXX male: A clinical and molecular study", AM J MED G, 98(4), 2001, pp. 353-356
60. Iitsuka, Y; Bock, A; Nguyen, DD; Samango-Sprouse, CA; Simpson, JL; Bischoff, FZ
    Evidence of skewed X-chromosome inactivation in 47,XXY and 48,XXYY Klinefelter patients
    AMERICAN JOURNAL OF MEDICAL GENETICS
    
    Y. Iitsuka et al., "Evidence of skewed X-chromosome inactivation in 47,XXY and 48,XXYY Klinefelter patients", AM J MED G, 98(1), 2001, pp. 25-31
61. Khalifa, MM; Struthers, JL; Maurice, S; Harrison, K; Duncan, AMV
    Methylation of HpaII site at the human DXS16 locus on Xp22 as an assay forabnormal patterns of X inactivation
    AMERICAN JOURNAL OF MEDICAL GENETICS
    
    M.M. Khalifa et al., "Methylation of HpaII site at the human DXS16 locus on Xp22 as an assay forabnormal patterns of X inactivation", AM J MED G, 98(1), 2001, pp. 64-69
62. Rivero, MB; Olicio, R; Lima, CR; Bonvicino, CR; Moreira, MAM; Llerena, JC; Seuanez, HN
    Molecular analysis of HPRT1(+) somatic cell hybrids derived from a carrierof an HPRT1 mutation responsible for Lesch-Nyhan syndrome
    AMERICAN JOURNAL OF MEDICAL GENETICS
    
    M.B. Rivero et al., "Molecular analysis of HPRT1(+) somatic cell hybrids derived from a carrierof an HPRT1 mutation responsible for Lesch-Nyhan syndrome", AM J MED G, 103(1), 2001, pp. 48-55
63. Cheng, L; Gu, RA; Eble, JN; Bostwick, DG; Younger, C; MacLennan, GT; Abdul-Karim, FW; Geary, WA; Koch, MO; Zhang, SB; Ulbright, TM
    Molecular genetic evidence for different clonal origin of components of human renal angiomyolipomas
    AMERICAN JOURNAL OF SURGICAL PATHOLOGY
    
    L. Cheng et al., "Molecular genetic evidence for different clonal origin of components of human renal angiomyolipomas", AM J SURG P, 25(10), 2001, pp. 1231-1236
64. Jordan, JH; Fritsche-Polanz, R; Sperr, WR; Mitterbauer, G; Fodinger, M; Schernthaner, GH; Bankl, HC; Gebhart, W; Chott, A; Lechner, K; Valent, P
    A case of 'smouldering' mastocytosis with high mast cell burden, monoclonal myeloid cells, and C-KIT mutation Asp-816-Val
    LEUKEMIA RESEARCH
    
    J.H. Jordan et al., "A case of 'smouldering' mastocytosis with high mast cell burden, monoclonal myeloid cells, and C-KIT mutation Asp-816-Val", LEUK RES, 25(7), 2001, pp. 627-634
65. Tefferi, A
    Recent progress in the pathogenesis and management of essential thrombocythemia
    LEUKEMIA RESEARCH
    
    A. Tefferi, "Recent progress in the pathogenesis and management of essential thrombocythemia", LEUK RES, 25(5), 2001, pp. 369-377
66. Whybra, C; Kampmann, C; Willers, I; Davies, J; Winchester, B; Kriegsmann, J; Bruhl, K; Gal, A; Bunge, S; Beck, M
    Anderson-Fabry disease: Clinical manifestations of disease in female heterozygotes
    JOURNAL OF INHERITED METABOLIC DISEASE
    
    C. Whybra et al., "Anderson-Fabry disease: Clinical manifestations of disease in female heterozygotes", J INH MET D, 24(7), 2001, pp. 715-724
67. Kochhar, HPS; Peippo, J; King, WA
    Sex related embryo development
    THERIOGENOLOGY
    
    H.P.S. Kochhar et al., "Sex related embryo development", THERIOGENOL, 55(1), 2001, pp. 3-14
68. Lamb, DJ; Weigel, NL; Marcelli, M
    Androgen receptors and their biology
    VITAMINS AND HORMONES - ADVANCES IN RESEARCH AND APPLICATIONS, VOL 62
    
    D.J. Lamb et al., "Androgen receptors and their biology", VITAM HORM, 62, 2001, pp. 199-230
69. Diaz-Cano, SJ; De Miguel, M; Blanes, A; Galera, H; Wolfe, HJ
    Contribution of the microvessel network to the clonal and kinetic profilesof adrenal cortical proliferative lesions
    HUMAN PATHOLOGY
    
    S.J. Diaz-Cano et al., "Contribution of the microvessel network to the clonal and kinetic profilesof adrenal cortical proliferative lesions", HUMAN PATH, 32(11), 2001, pp. 1232-1239
70. Auranen, M; Vanhala, R; Vosman, M; Levander, M; Varilo, T; Hietala, M; Riikonen, R; Peltonen, L; Jarvela, I
    MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features
    NEUROLOGY
    
    M. Auranen et al., "MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features", NEUROLOGY, 56(5), 2001, pp. 611-617
71. Hoffbuhr, K; Devaney, JM; LaFleur, B; Sirianni, N; Scacheri, C; Giron, J; Schuette, J; Innis, J; Marino, M; Philippart, M; Narayanan, V; Umansky, R; Kronn, D; Hoffman, EP; Naidu, S
    MeCP2 mutations in children with and without the phenotype of Rett syndrome
    NEUROLOGY
    
    K. Hoffbuhr et al., "MeCP2 mutations in children with and without the phenotype of Rett syndrome", NEUROLOGY, 56(11), 2001, pp. 1486-1495
72. Surani, MA
    Reprogramming of genome function through epigenetic inheritance
    NATURE
    
    M.A. Surani, "Reprogramming of genome function through epigenetic inheritance", NATURE, 414(6859), 2001, pp. 122-128
73. Heim, S; Teixeira, MAR; Pandis, N
    Are some breast carcinomas polyclonal in origin?
    JOURNAL OF PATHOLOGY
    
    S. Heim et al., "Are some breast carcinomas polyclonal in origin?", J PATHOLOGY, 194(4), 2001, pp. 395-397
74. Going, JJ; El-Monem, HMA; Craft, JA
    Clonal origins of human breast cancer
    JOURNAL OF PATHOLOGY
    
    J.J. Going et al., "Clonal origins of human breast cancer", J PATHOLOGY, 194(4), 2001, pp. 406-412
75. Diallo, R; Schaefer, KL; Poremba, C; Shivazi, N; Willmann, V; Buerger, H; Dockhorn-Dworniczak, B; Boecker, W
    Monoclonality in normal epithelium and in hyperplastic and neoplastic lesions of the breast
    JOURNAL OF PATHOLOGY
    
    R. Diallo et al., "Monoclonality in normal epithelium and in hyperplastic and neoplastic lesions of the breast", J PATHOLOGY, 193(1), 2001, pp. 27-32
76. Villard, L; Levy, N; Xiang, FQ; Kpebe, A; Labelle, V; Chevillard, C; Zhang, ZP; Schwartz, CE; Tardieu, M; Chelly, J; Anvret, M; Fontes, M
    Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications forthe disease
    JOURNAL OF MEDICAL GENETICS
    
    L. Villard et al., "Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications forthe disease", J MED GENET, 38(7), 2001, pp. 435-442
77. Costello, JF; Plass, C
    Methylation matters
    JOURNAL OF MEDICAL GENETICS
    
    J.F. Costello e C. Plass, "Methylation matters", J MED GENET, 38(5), 2001, pp. 285-303
78. Asplund, A; Guo, ZM; Hu, XR; Wassberg, C; Ponten, F
    Mosaic pattern of maternal and paternal keratinocyte clones in normal human epidermis revealed by analysis of X-chromosome inactivation
    JOURNAL OF INVESTIGATIVE DERMATOLOGY
    
    A. Asplund et al., "Mosaic pattern of maternal and paternal keratinocyte clones in normal human epidermis revealed by analysis of X-chromosome inactivation", J INVES DER, 117(1), 2001, pp. 128-131
79. Nakamura, H; Hirota, S; Adachi, S; Ozaki, K; Asada, H; Kitamura, Y
    Clonal nature of seborrheic keratosis demonstrated by using the polymorphism of the human androgen receptor locus as a marker
    JOURNAL OF INVESTIGATIVE DERMATOLOGY
    
    H. Nakamura et al., "Clonal nature of seborrheic keratosis demonstrated by using the polymorphism of the human androgen receptor locus as a marker", J INVES DER, 116(4), 2001, pp. 506-510
80. Boye, E; Yu, Y; Paranya, G; Mulliken, JB; Olsen, BR; Bischoff, J
    Clonality and altered behavior of endothelial cells from hemangiomas
    JOURNAL OF CLINICAL INVESTIGATION
    
    E. Boye et al., "Clonality and altered behavior of endothelial cells from hemangiomas", J CLIN INV, 107(6), 2001, pp. 745-752
81. Diaz-Cano, SJ; de Miguel, M; Blanes, A; Tashjian, R; Wolfe, HJ
    Germline RET 634 mutation positive MEN 2A-related C-cell hyperplasias havegenetic features consistent with intraepithelial neoplasia
    JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM
    
    S.J. Diaz-Cano et al., "Germline RET 634 mutation positive MEN 2A-related C-cell hyperplasias havegenetic features consistent with intraepithelial neoplasia", J CLIN END, 86(8), 2001, pp. 3948-3957
82. Chadwick, BP; Willard, HF
    A novel chromatin protein, distantly related to histone H2A, is largely excluded from the inactive X chromosome
    JOURNAL OF CELL BIOLOGY
    
    B.P. Chadwick e H.F. Willard, "A novel chromatin protein, distantly related to histone H2A, is largely excluded from the inactive X chromosome", J CELL BIOL, 152(2), 2001, pp. 375-384
83. Burritt, JB; DeLeo, FR; McDonald, CL; Prigge, JR; Dinauer, MC; Nakamura, M; Nauseef, WM; Jesaitis, AJ
    Phage display epitope mapping of human neutrophil flavocytochrome b(558) -Identification of two juxtaposed extracellular domains
    JOURNAL OF BIOLOGICAL CHEMISTRY
    
    J.B. Burritt et al., "Phage display epitope mapping of human neutrophil flavocytochrome b(558) -Identification of two juxtaposed extracellular domains", J BIOL CHEM, 276(3), 2001, pp. 2053-2061
84. Chen, CC; Fang, M; Majumder, A; Wu, HY
    A 72-base pair AT-rich DNA sequence element functions as a bacterial gene silencer
    JOURNAL OF BIOLOGICAL CHEMISTRY
    
    C.C. Chen et al., "A 72-base pair AT-rich DNA sequence element functions as a bacterial gene silencer", J BIOL CHEM, 276(12), 2001, pp. 9478-9485
85. Lucarelli, M; Fuso, A; Strom, R; Scarpa, S
    The dynamics of myogenin site-specific demethylation is strongly correlated with its expression and with muscle differentiation
    JOURNAL OF BIOLOGICAL CHEMISTRY
    
    M. Lucarelli et al., "The dynamics of myogenin site-specific demethylation is strongly correlated with its expression and with muscle differentiation", J BIOL CHEM, 276(10), 2001, pp. 7500-7506
86. Lebrun, E; Revardel, E; Boscheron, C; Li, R; Gilson, E; Fourel, G
    Protosilencers in Saccharomyces cerevisiae subtelomeric regions
    GENETICS
    
    E. Lebrun et al., "Protosilencers in Saccharomyces cerevisiae subtelomeric regions", GENETICS, 158(1), 2001, pp. 167-176
87. Uehara, S; Hashiyada, M; Sato, K; Sato, Y; Fujimori, K; Okamura, K
    Preferential X-chromosome inactivation in women with idiopathic recurrent pregnancy loss
    FERTILITY AND STERILITY
    
    S. Uehara et al., "Preferential X-chromosome inactivation in women with idiopathic recurrent pregnancy loss", FERT STERIL, 76(5), 2001, pp. 908-914
88. Mermoud, JE; Tassin, AM; Pehrson, JR; Brockdorff, N
    Centrosomal association of histone macroH2A1.2 in embryonic stem cells andsomatic cells
    EXPERIMENTAL CELL RESEARCH
    
    J.E. Mermoud et al., "Centrosomal association of histone macroH2A1.2 in embryonic stem cells andsomatic cells", EXP CELL RE, 268(2), 2001, pp. 245-251
89. Nesterova, TB; Barton, SC; Surani, MA; Brockdorff, N
    Loss of Xist imprinting in diploid parthenogenetic preimplantation embryos
    DEVELOPMENTAL BIOLOGY
    
    T.B. Nesterova et al., "Loss of Xist imprinting in diploid parthenogenetic preimplantation embryos", DEVELOP BIO, 235(2), 2001, pp. 343-350
90. Gray, BA; Bent-Williams, A; Wolff, DJ; Zori, RT
    A non-sex chromosome marker in a patient with an atypical Ullrich-Turner phenotype and mosaicism of 46,X,mar/46,XX
    CLINICAL GENETICS
    
    B.A. Gray et al., "A non-sex chromosome marker in a patient with an atypical Ullrich-Turner phenotype and mosaicism of 46,X,mar/46,XX", CLIN GENET, 60(1), 2001, pp. 73-76
91. Izawa, T; Obara, T; Tanno, S; Mizukami, Y; Yanagawa, N; Kohgo, Y
    Clonality and field cancerization in intraductal papillary-mutinous tumorsof the pancreas
    CANCER
    
    T. Izawa et al., "Clonality and field cancerization in intraductal papillary-mutinous tumorsof the pancreas", CANCER, 92(7), 2001, pp. 1807-1817
92. Krepischi-Santos, ACV; Carneiro, JDA; Svartman, M; Bendit, I; Odone, V; Vianna-Morgante, AM
    Deletion of the factor IX gene as a result of translocation t(X;1) in a girl affected by haemophilia B
    BRITISH JOURNAL OF HAEMATOLOGY
    
    A.C.V. Krepischi-Santos et al., "Deletion of the factor IX gene as a result of translocation t(X;1) in a girl affected by haemophilia B", BR J HAEM, 113(3), 2001, pp. 616-620
93. Holt, I; Clements, L; Manilal, S; Morris, GE
    How does a g993t mutation in the emerin gene cause Emery-Dreifuss musculardystrophy?
    BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
    
    I. Holt et al., "How does a g993t mutation in the emerin gene cause Emery-Dreifuss musculardystrophy?", BIOC BIOP R, 287(5), 2001, pp. 1129-1133
94. Lanasa, MC; Hogge, WA; Kubik, CJ; Ness, RB; Harger, J; Nagel, T; Prosen, T; Markovic, N; Hoffman, EP
    A novel X chromosome-linked genetic cause of recurrent spontaneous abortion
    AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY
    
    M.C. Lanasa et al., "A novel X chromosome-linked genetic cause of recurrent spontaneous abortion", AM J OBST G, 185(3), 2001, pp. 563-568
95. Niida, Y; Stemmer-Rachamimov, AO; Logrip, M; Tapon, D; Perez, R; Kwiatkowski, DJ; Sims, K; MacCollin, M; Louis, DN; Ramesh, V
    Survey of somatic mutations in tuberous sclerosis complex (TSC) hamartomassuggests different genetic mechanisms for pathogenesis of TSC lesions
    AMERICAN JOURNAL OF HUMAN GENETICS
    
    Y. Niida et al., "Survey of somatic mutations in tuberous sclerosis complex (TSC) hamartomassuggests different genetic mechanisms for pathogenesis of TSC lesions", AM J HU GEN, 69(3), 2001, pp. 493-503
96. Robertson, SP; Walsh, S; Oldridge, M; Gunn, T; Becroft, D; Wilkie, AOM
    Linkage of otopalatodigital syndrome type 2 (OPD2) to distal Xq28: Evidence for allelism with OPD1
    AMERICAN JOURNAL OF HUMAN GENETICS
    
    S.P. Robertson et al., "Linkage of otopalatodigital syndrome type 2 (OPD2) to distal Xq28: Evidence for allelism with OPD1", AM J HU GEN, 69(1), 2001, pp. 223-227
97. Trappe, R; Laccone, F; Cobilanschi, J; Meins, M; Huppke, P; Hanefeld, F; Engel, W
    MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin
    AMERICAN JOURNAL OF HUMAN GENETICS
    
    R. Trappe et al., "MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin", AM J HU GEN, 68(5), 2001, pp. 1093-1101
98. Jacobs, N; Van Gestel, S; Derom, C; Thiery, E; Vernon, P; Derom, R; Vlietinck, R
    Heritability estimates of intelligence in twins: Effect of chorion type
    BEHAVIOR GENETICS
    
    N. Jacobs et al., "Heritability estimates of intelligence in twins: Effect of chorion type", BEHAV GENET, 31(2), 2001, pp. 209-217
99. Volleth, M; Stumm, M; Mohnike, K; Kalscheuer, VM; Jakubiczka, S; Wieacker, P
    Preferential inactivation of a dupX(q23 -> q27-28) chromosome in a girl with mental retardation and dysmorphy
    HUMAN HEREDITY
    
    M. Volleth et al., "Preferential inactivation of a dupX(q23 -> q27-28) chromosome in a girl with mental retardation and dysmorphy", HUMAN HERED, 52(3), 2001, pp. 177-182
100. Gu, J; Roth, LM; Younger, C; Michael, H; Abdul-Karim, FW; Zhang, SB; Ulbright, TM; Eble, JN; Cheng, L
     Molecular evidence for the independent origin of extra-ovarian papillary serous tumors of low malignant potential
     JOURNAL OF THE NATIONAL CANCER INSTITUTE
     
     J. Gu et al., "Molecular evidence for the independent origin of extra-ovarian papillary serous tumors of low malignant potential", J NAT CANC, 93(15), 2001, pp. 1147-1152